98%
921
2 minutes
20
Background: Primary membranous nephropathy (pMN) is the most common cause of nephrotic syndrome in adults. The discovery of the 2 autoantigens, M-type phospholipase A2 receptor (PLA2R) and thrombospondin type-1 domain-containing 7A (THSD7A), has defined pMN as an autoimmune disease. A remarkable increase in the frequency of pMN in primary glomerular disease was witnessed in China. The genetic and environmental contributors to disease susceptibility have been investigated in these patients.
Summary: We reviewed recent publications in genetic and environmental studies of pMN, focusing mainly on those undertaken in China. Following a genome-wide association study, the gene-gene interaction between the 2 most significant risk factors, PLA2R1 and DQA1, was validated in Chinese patients with MN. Fine mapping on human leukocyte antigen (HLA) locus found that DRB1*1501 and DRB1*0301 were risk alleles. Three amino acid residues on positions 13 and 71 of HLA-DRβ1 chain may confer the susceptibility to pMN by presenting T-cell epitopes on PLA2R. Another study found that DRB3*0202 was the most likely culprit allele for the signal at DRB1*0301. One environmental risk factor for pMN has been identified as the long-term exposure to high levels of PM in Chinese patients with MN. Each 10 μg/m increase in PM concentration was associated with 14% higher odds for pMN in the regions with PM above 70 μg/m.
Key Message: A gene-environment interaction is suspected as an underlying mechanism for the increasing trend of pMN in China.
Download full-text PDF |
Source |
---|---|
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6029227 | PMC |
http://dx.doi.org/10.1159/000487136 | DOI Listing |
Stem Cell Res
September 2025
Department of General Pediatrics, Neonatology, and Pediatric Cardiology, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine-University, Düsseldorf 40225, Germany. Electronic address:
Pathogenic variants in the gene COQ4 cause primary coenzyme Q deficiency, which is associated with symptoms ranging from early epileptic encephalopathy up to adult-onset ataxia-spasticity spectrum disease. We genetically modified commercially available wild-type iPS cells by using a CRISPR/Cas9 approach to create heterozygous and homozygous isogenic cell lines carrying the disease-causing COQ4 variants c.458C > T, p.
View Article and Find Full Text PDFJMIR Cancer
September 2025
iCARE Secure Data Environment & Digital Collaboration Space, NIHR Imperial Biomedical Research Centre, London, United Kingdom.
Background: Electronic health records (EHRs) are a cornerstone of modern health care delivery, but their current configuration often fragments information across systems, impeding timely and effective clinical decision-making. In gynecological oncology, where care involves complex, multidisciplinary coordination, these limitations can significantly impact the quality and efficiency of patient management. Few studies have examined how EHR systems support clinical decision-making from the perspective of end users.
View Article and Find Full Text PDFJ Sex Marital Ther
September 2025
Department of Psychiatry, Cerrahpasa Medical Faculty, Istanbul University-Cerrahpasa, Istanbul, Türkiye.
The etiology of gender dysphoria (GD) involves both biological and psychosocial factors and may have a neurodevelopmental aspect. We aimed to compare individuals with GD with each other and with cisgender individuals based on minor physical anomalies (MPAs). The case group comprised 108 individuals with GD (60 GD assigned female at birth [AFAB]; 48 GD assigned male at birth [AMAB]), most with same-biological-sex attraction.
View Article and Find Full Text PDFSci Adv
September 2025
Department of Bioengineering and Therapeutic Sciences, University of California, San Francisco, San Francisco, CA, USA.
Breastfeeding is essential for reducing infant morbidity and mortality, yet exclusive breastfeeding rates remain low, often because of insufficient milk production. The molecular causes of low milk production are not well understood. Fresh milk samples from 30 lactating individuals, classified by milk production levels across postpartum stages, were analyzed using genomic and microbiome techniques.
View Article and Find Full Text PDFPLoS One
September 2025
Department of Pathology, Microbiology, and Immunology, School of Veterinary Medicine, University of California, Davis, California, United States of America.
Fatal infections with the rare COUG strain of the zoonotic parasite Toxoplasma gondii were recently detected for the first time in four southern sea otters (Enhydra lutris nereis) exhibiting severe protozoal steatitis. The objectives of this study were to describe new COUG strain infections in sea otters, investigate the potential contributory role of a recently discovered parasite-infecting narnavirus (Apocryptovirus odysseus) in these infections, assess the potential contribution of vitamin E deficiency in the development of systemic steatitis, and explore the utility of serotyping for strain-specific diagnosis of T. gondii infections in sea otters.
View Article and Find Full Text PDF